MYL2

myosin light chain 2
OMIM: 160781, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green MYL2 in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 1.0 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 10, MIM# 608758
Green MYL2 in Incidentalome Version 0.318	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424 Cardiomyopathy, hypertrophic, 10, MIM# 608758 Tags cardiac
Green MYL2 in Additional findings_Adult Level 2: Screening Version 0.169	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Cardiomyopathy, hypertrophic, 10, MIM# 608758
Green MYL2 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.42 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424)
Green MYL2 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.196	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH South West GLH NHS GMS Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424 Cardiomyopathy, hypertrophic, 10, MIM# 608758
Amber MYL2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Cardiomyopathy, familial hypertrophic, 10
Green MYL2 in Incidentalome_PREGEN_DRAFT Version 0.43	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Amber MYL2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, familial hypertrophic, 10
Green MYL2 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 10, MIM# 608758